ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.905-3T>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290214 SCV002579392 uncertain significance Juvenile polyposis syndrome 2021-08-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002290214 SCV005753218 uncertain significance Juvenile polyposis syndrome 2024-07-19 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the SMAD4 gene. It does not directly change the encoded amino acid sequence of the SMAD4 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SMAD4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1709872). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). RNA analysis performed to evaluate the impact of this variant on mRNA splicing indicates it does not significantly alter splicing (Invitae). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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